Abstract
Objective: To explore the application significance of SNP microarray technique in fetal central nervous system deformity and the relationship between chromosome abnormality and fetal nervous system abnormality. Methods: Collection of 40 abnormal amniotic fluid and abortion casese of fetal nervous system abnormalities sereened by Ultrasonic testing and Nuclear magnetic resonance (NMR) were tested by SNP microarray technology, of the 40 samples, 32 samples of amniotic fluid were additionally analyzed with traditional karyotype. Results: The success rate of fetal nervous system anomaly detection was 100%. At the same time, in 32 cases of amniotic fluid analysis, 31 cases were successfully cultured, and the success rate was 96.9%. There were 7 cases of chromosome abnormality (17.5%), 2 cases with abnormal number(5%), 5 cases of structural abnormalities（12.5%）.32 samples of amniotic fluid were tested both by traditional karyotype analysis and SNP microarray technique, the traditional karyotype analysis only found 2 cases of numerical chromosomal abnormalities. SNP chromosome microarray technology also found 2 cases structura1 chromosomal abnormalities in the sample of lateral ventricle and hydrocephalus. Additonally detected out 3 cases of structura1 chromosomal abnormalities among 8 cases of abortion samples with fetal nervous system abnormality. Conclusion: SNP microarray can not only detect the numerical abnormalities of chromosome and large fragments of structural abnormalities, but also detect the microdeletion and microduplation of chromosomes, so as to help fully understanding the status of the chromosomal abnormalities of fetal nervous system abnormality, Particularly, gene copy number variation (CNV) is closely related to fetal central nervous system abnormality.
Highlights
The development of the central nervous system is carried out strictly in accordance with procedures and is one of the most complex systems in the human body
3 chromosome abnormalities were detected with SNP chromosome microarray technique in 8 cases of abortive chromosomes, and all 5 structural abnormalities were pathogenic
In addition to teratogenicity caused by disturbances in the development of neural tube and brain bubble caused by teratogenic factors in the environment, many reports have been reported in relation to chromosome number, especially trisomy 13 and trisomy 18 [4]
Summary
The development of the central nervous system is carried out strictly in accordance with procedures and is one of the most complex systems in the human body. The etiology of central nervous system abnormalities is highly heterogeneous, genetic factor is considered to be the major reason [2,3], especially trisomy 13 and trisomy 18. With the rapid development of molecular genetics, it has been found that between the nervous system malformation and deletion/duplication of chromosome fragments have a certain relationship [4]. G-banding karyotyping is consistently considered as the golden standard for checking chromosomes. There are many deficiencies in this technique, which are mainly manifested in the in vitro culture of fetal exfoliated cells. FISH technology does not need cell culture, it can only detect specific known regions and the technical operation is difficult, time-consuming and low-flux [6].
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